United States Pulmonary Hypertension Scientific Registry

Badlam, Jessica; Badesch, David B.; Austin, Eric D.; Benza, Raymond L.; Chung, Wendy K.; Farber, Harrison W.; Feldkircher, Kathy; Frost, Adaani E.; Poms, Abby; Lutz, Katie A.; Pauciulo, Michael W.; Yu, Chang; Nichols, William C.; Elliott, C. Gregory; Simms, Robert W.; Fortin, Terry; Safdar, Zeenat; Burger, Charles D.; Frantz, Robert P.; Hill, Nicholas S.; Airhart, Sophia; Elwing, Jean M.; Simon, Marc A.; Rj, White; Robbins, Ivan M.; Chakinala, Murali M.

doi:10.1016/j.chest.2020.07.088

Cited by 31 publications

(36 citation statements)

References 51 publications

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“…In the distribution of subgroups with group 1 PAH, half were either IPAH or heritable PAH and half were APAH. Whereas the general demographic and clinical characteristics were similar to the Registry to Evaluate Early and Longterm PAH Disease Management (REVEAL; Table 2), 5,8 the time from symptom onset to diagnosis by right-sided heart catheterization remained problematic (1.9 vs 2.8 years). Fortunately, more patients (66% vs 54%) were treated with combination therapy, considering the results of the AMBITION trial.…”

Section: Demographic and Clinical Characteristicsmentioning

confidence: 92%

“…4 Interestingly, analysis from the United States Pulmonary Hypertension Scientific Registry (USPHSR) revealed that genetic testing reclassified 18% of idiopathic PAH (IPAH) diagnoses and 5% of associated PAH (APAH) diagnoses as heritable PAH. 5 Whereas advances in genetic testing and genomics are encouraging, the only strict guideline for screening is that genetic counseling be provided to address complex issues such as incomplete penetrance, psychosocial burden, reproductive decisions, and genetic discrimination (eg, by employers or insurers). 6 Consideration for referral to a genetic counselor is reasonable in patients with IPAH, particularly if there is a family history of PAH.…”

Section: Pathobiologymentioning

confidence: 99%

“…7 The USPHSR contributed additional data to the understanding of the current PAH demographic. 5 From 2015 to 2018, of 979 potentially eligible patients, 499 were analyzed. The average age was 56 years, and 79% were women.…”

Section: Demographic and Clinical Characteristicsmentioning

confidence: 99%

See 2 more Smart Citations

Topic-Based, Recent Literature Review on Pulmonary Hypertension

Burger

DuBrock

Cartin‐Ceba

et al. 2021

Mayo Clinic Proceedings

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Pulmonary hypertension is a complex condition but a relatively common manifestation of severe cardiopulmonary disease. By contrast, pulmonary arterial hypertension is uncommon and is more prevalent in young women. To better categorize patients and to guide clinical decision-making, 5 diagnostic groups and associated subgroups characterize the spectrum of disease. A multidisciplinary approach to evaluation and treatment is recommended by published guidelines and often entails referral to a designated pulmonary hypertension center. Several key publications during the last couple of years merit review. The PubMed database was searched for English-language studies and guidelines relating to pulmonary hypertension. The following terms were searched, alone and in combination: pulmonary hypertension, pulmonary arterial hypertension, portopulmonary hypertension, and chronic thromboembolic pulmonary hypertension. The focus was on those publications with new information on evaluation and management of pulmonary hypertension between January 1, 2019, and January 31, 2021. Of the subgroups, 2 were of particular interest for this review: portopulmonary hypertension and chronic thromboembolic pulmonary hypertension. Last, available data on the impact of the coronavirus disease 2019 pandemic and newer treatment agents in early trials were selectively reviewed. The review is therefore intended to serve as a practical, focused review of important topics germane to those clinicians caring for patients with pulmonary hypertension.pulmonary hypertension, pulmonary arterial hypertension, right ventricular failure

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Section: Demographic and Clinical Characteristicsmentioning

confidence: 92%

Section: Pathobiologymentioning

confidence: 99%

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Topic-Based, Recent Literature Review on Pulmonary Hypertension

Burger

DuBrock

Cartin‐Ceba

et al. 2021

Mayo Clinic Proceedings

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“… 16 Pathogenic mutations in BMPR2 are the most common cause of HPAH in both adults and children. 4 , 18 , 19 However, the nature of causal gene mutations found in children with PAH differs significantly from the nature of those found in adults with PAH. 18 De novo mutations, those not inherited from parents, are more likely to cause PAH in children than adults.…”

Section: Heritable Pulmonary Arterial Hypertensionmentioning

confidence: 99%

“…In 2020, investigators for the United States Pulmonary Hypertension Scientific Registry (USPHSR) provided data from the first US PAH patient registry to include genetic information. 4 Genetic testing identified pathogenic or suspected pathogenic variants in 67 of 499 (13%) USPHSR participants and reclassified 40 of 218 (18%) patients diagnosed with idiopathic PAH (IPAH) and 13 of 256 (5%) patients diagnosed with associated PAH (APAH) to HPAH.…”

Section: Introductionmentioning

confidence: 99%

Genetic Counseling and Testing in Pulmonary Arterial Hypertension

Elliott

2021

Methodist DeBakey Cardiovascular Journal

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A subgroup of patients diagnosed with pulmonary arterial hypertension (PAH) carry transmissible pathogenic gene mutations. For many of these patients, the heritable nature of their disease can only be uncovered by genetic testing. Because identification of PAH patients who carry pathogenic gene mutations has important implications for other family members, genetic counseling and testing should be offered to patients diagnosed with idiopathic or familial PAH. This review describes the current state of genetic counseling and testing for patients diagnosed with PAH.

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Vascular stiffening in aging females with a hypertension‐induced HIF2A gain‐of‐function mutation

Volkova

Procell

Kong

et al. 2022

Bioengineering & Transla Med

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Pulmonary arterial hypertension (PAH) is more prevalent in females than males; the causes of this sex difference have not been adequately explored. Gain-of-function (GOF) mutations in hypoxia-inducible factor 2α (HIF2A) lead to PAH and thrombotic consequences in patients and mice. Additionally, multiple emerging studies suggest that elevated systemic arterial stiffening (SAS) occurs in PAH; this could have critical prognostic value. Here, we utilized a HIF2A GOF mouse model to determine how SAS can be used as a prognosticator in sex-divergent PAH. We analyzed survival, vascular mechanics, and vascular phenotypes in young adult (8-16 weeks) and middle age (9-12 months) Hif2a GOF mice. We find that Hif2a heterozygous (HT) female mice, but not Hif2a HT male mice, exhibit poor survival, SAS upon aging, and decreased ability to withstand repeated physiological strain. Hif2a HT female mice also display thickening of the adventitial intima and increased collagen I and collagen III in all layers of the thoracic aorta. Our findings demonstrate differing PAH progression in female and male Hif2a GOF mice. Specifically, alterations in extracellular matrix (ECM) content led to vascular stiffening in aged females, resulting in poor survival. Moreover, we show that SAS emerges early in mice with PAH by coupling studies of vascular mechanics and analyzing vascular structure and composition.Importantly, we present a model for assessing sex differences in hereditary PAH progression and sex-specific prognosis, proposing that aortic stiffening can be used to prognosticate future poor outcomes in PAH.

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United States Pulmonary Hypertension Scientific Registry

Cited by 31 publications

References 51 publications

Topic-Based, Recent Literature Review on Pulmonary Hypertension

Topic-Based, Recent Literature Review on Pulmonary Hypertension

Genetic Counseling and Testing in Pulmonary Arterial Hypertension

Vascular stiffening in aging females with a hypertension‐induced HIF2A gain‐of‐function mutation

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